Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru.
Instituto de Investigación Genómica, IGENOMICA, Lima, Lima, San Borja 15037, Peru.
F1000Res. 2023 Oct 30;12:603. doi: 10.12688/f1000research.131094.2. eCollection 2023.
Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in and genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the gene detected by exomic sequencing in amniotic fluid.
成骨不全症被认为是一种罕见的遗传疾病，其特征是骨骼脆弱。85%的病例是由 和 基因的突变引起的，这些基因对于产生 I 型胶原至关重要。我们报告了一例女性新生儿，在圣巴托洛梅教学医院出生，其母亲有锁骨骨折家族史。对母亲在 29 周时进行了产前超声检查。发现胎儿形态异常并有多处骨折。因此，进行了成骨不全症的产前诊断。新生儿出生时患有呼吸窘迫综合征和非发绀性先天性心脏病。因此，她一直在新生儿重症监护病房，直到死亡。我们强调了在这类疾病中产前诊断、遗传咨询和多学科评估的重要性，并报告了通过羊水外显子测序检测到的 基因中的一个新的可能致病变异。
